Random thoughts from a few cantankerous American physicians. All contributors are board certified. Various specialties are represented here. I do not know where this will lead but hope it will at least be an enjoyable read. All of the names mentioned in this blog are pseudonyms, the ages have been changed, and in half the cases the gender as well. All photographs are published with patient consent or are digitally altered to preserve anonymity. Trust us, we're doctors.

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Wednesday, August 13, 2008

911's peachy flow chart has motivated me to tell a story that can only be appreciated through graphic representation.

Some definitions of the symbols in the above diagram:

*square = male, circle = female

*double lines mean consanguineous relationship

For the non-geneticists, let me describe in prose what you are seeing: Billy Bob and Bobby Sue were 1st cousins and had a daughter and son. That brother and sister loved each other, or at least had nothing better to do after bowling league, and had sex. This act of love produced a daughter who, since she looked like her mom / aunt, fired up the loins of dad / uncle. They consummated this forbidden love in the back of a pickup truck in the Wal-Mart parking lot. This moment of beauty and caring produced yet another daughter. This was my patient (bottom circle).

Now for the quiz:

1. What state were they from? (1 point - too easy)

2. What type of disease did my patient have? (5 points)

3. What is an "FLK"? (2 points)

4. Aside from being an FLK, what was the main symptom in this infant? (5 points)

5. What was the father / uncle / grandfather's approximate tooth to tattoo ratio? (2 points)

6. What does a 12 year old girl from the south say after she's had sex for the first time? (5 points)

7. What percent shared genes, on average, would my patient and her father have? (10 points)

0 points: You are this patient.

1-10 points: You are the father.

11-20 points: Not bad. Consider rehabbing your double-wide trailer.

21-30 points: You are a sick fuck. Get a life.

>30 points: You are a genius! Unfortunately, you are also a cheating douche since 30 is the max score. Go hang out with Marion Jones.

48 comments:

1. they were from boulder, colorado bitch.2. kid had a recessive genetic disorder, don't know which one.3. 'funny looking kid'4. bleeding and bruising at slightest touch?5. 1:16. 'get off dad, you're crushing my cigarettes'7. 66.6%? the number of the beast?

1. Alabama? I thought this sort of stuff is legal only in that state. But what do I know.. I'm not an American

2. Most probably some autosomal or X-lined recessive disorder. Fragile-X syndrome -- considering its a 'funny looking kid' according to 911doc.

3. Bah.. I cheated! Funny looking kid! :P

4. Severe mental retardation... just like the father. Of course the father must have had HUGE BALLS so as to do something so disgraceful.. another feature of Fragile X! :D

5. I'd go with 1:2 considering the easy availabilty and popularity of both tobacco and tattoo parlours in the Southern US states.

6. "Can I have a sip of that beer dad? Cause you sure taste funny.."

7. Wow. This one might require the special theory of relativity.

One of the important reasons I took up Medicine is cause I suck at mathematics.. so I'll just stay shut. Although, I'd like to think that 66.6% may be a conservative estimate, considering the fact that gene sharing has been taking place since several generations in this family. I'd go with 75%.. but that's a completely absurd and pseudo-scientific answer.

Question:

1. Why isn't this family on Jerry Springer?

2. Why should Medicine intervene for this child, and effectively ensure that genes coding for this genetic disorder (not to mention, abyssmal studpidity) are passed on to the next set of kids (or should I say, man and wife!).

3. Doesn't anyone like Charles Darwin around here? Cause, contrary to what he wrote about, I believe the flowchart above effectively describes 'The Origin of Faeces'.

I used to look at all the photos of weird looking kids in my Mom's journals, and I've actually spotted several FLKs based on my childhood reading (particularly FAS). Other kids read about Curious George, I guess.

1) Welfare state where the motto is: We got mo' money than you got brains

2) Hmmm... so many diseases this child could have...mental retardation, albinism or hyperpigmentation, copralia, though disorder... so in short the disease would be Presidential Aspirations?

3) FLK - Fine looking kindergarteners. eeewwww.

4) Epigastric pain from the stress of worrying if John Edwards schedule has opened up so he can sue you for the banjo jokes. Strangely, Mr Edwards has some sudden openings.

5) tooth/tat ratio ... a trick question? The same ratio as the number of true emergencies:number of cretins like this in the waiting room. Or the inverse of the acceptance rate of the father in the chimpanzee cage at the zoo,

6) "Daddy are you sure that was long enough to make my boobs bigger?" eeeewwww!

7) He told the police he shared is genes just once. After getting liquored up and going to the ER where they gave him Haldol that made him horny. It;s the doctor's fault.

2. Any of a number of rare, autosomal recessive conditions, whose rates increase in families with consanguineous members (many types of brain degenerations, blood dyscrasias, types of dwarfism, and several syndromes of connected congenital malformations in the entire body)

pinky swear i am not going to look up above and cheat....1. red state.. you choose.2. primary seizure disorder ( undiagnosed until now,,,)3. funny looking kid as opposed to PPP( piss poor protoplasm)4.decreased loc/postictal/ and then the failure to thrive/ dehydration5. probably 6:8 ( not counting what is beneath the overalls)6. done, daddy?7. way too much math for me; but more than we would want.

Trick question! They are (obviously) Canadian. However, any state below the Mason-Dixon Line is an acceptable answer.

2. What type of disease did my patient have? (5 points)

Anything autosomal recessive is acceptable. She actually had some citric acid cycle enzyme deficiency that no one had ever heard of.

3. What is an "FLK"? (2 points)

Funny Lookin' Kid.

4. Aside from being an FLK, what was the main symptom in this infant? (5 points)

I said INFANT!! Hard to diagnose retardation in an infant. The symptom was "floppyness".

5. What was the father / uncle / grandfather's approximate tooth to tattoo ratio? (2 points)

Anything below 1 is acceptable.

6. What does a 12 year old girl from the south say after she's had sex for the first time? (5 points)

"Get off me Daddy, y'all are crushin' my cigarettes!"

Any answer implying sex with a relative is acceptable.

7. What percent shared genes, on average, would my patient and her father have? (10 points)

This is tough. I get ~90%. Any genetics / math whiz please tell me if I'm wrong. This is a shocking number: put it this way, if two identical twins boned (and could actually breed), the child would share 100% of genes (basically cloning). This is, I believe, a "near cloning".

If you answered any number <50%, please don't clone yourself.

Now for the awards: theabacus and teresa tie for first because I liked their #6 answer. igloodoc gets honorable mention for being a twisted freak.

Actually, I didn't forget to include the 1st cousin aspect, but you are right, I am wrong. I stumbled at the end over my own vomit. Maybe later I can try again, when I have some time. I do so wanna be teacher's pet.

Holy crap! I took out my calculator and some ondansetron to try and work this one out. Turns out I got the exact same figure as Teresa. Well, almost. I've also taken into account the 1st cousin aspects etc. Wow.. hats off to you! Took me ages..

The numbers we have crunched are just theoretical, as these are just general averages. Interestingly, the part of the genetic code which actually varies between people, which accounts for one's phenotype, is minuscule. Turns out the average genetic variation between Adolf Hitler, Barbara Streisand, Helen Keller, Michael Jackson and YOU is 0.1%. Scary thought. And to think that variations in this 0.1% give rise to the variety of people which inhabit this planet, amazing!

http://en.wikipedia.org/wiki/Human_genetic_variation

As a fitting end to this discussion, I'd like to quote a small dialogue from House..

Dr. Gregory House: Oxygen saturation is 94 percent. Check her heart.Dr. Eric Foreman: Her oxygen saturation is normal.Dr. Gregory House: It's off by one percentage point.Dr. Eric Foreman: It's within range. It's normal.Dr. Gregory House: If her DNA was off by one percentage point, she'd be a dolphin.

OK, Dr. etotheipi, here's what I get. Please grade my work leniently, bearing in mind that I am not a medical doctor.

I am assuming that genes from unrelated individuals are 0% shared, and that all grandparents of the 1st generation are unrelated.

1st generation couple have 25% common genes.

2nd generation is a brother and sister, children of the cousins above. They share 62.5% in common.

Their child shares 81.25% with each of her parents.

The child of this girl's union with her father, your patient, shares 90.625% with her father. 50% she gets directly from her father. The other 50% she gets from her mother, who has in common 81.25% with her father/bed-partner/freak. Therefore, 81.25% of the (50%) genes she gets from her mother are in common with her father, or 40.625% of the total, making her 50% + 40.625% = 90.625% genetically identical to her father (on average).

Umm... this is a very complex problem that has been the subject of genetics papers.

There are approx 30,000 genes in the human genome. Simple sexual reproduction says that half of the DNA of the offspring is from the father, so 50% of the genes are shared by the father. (not counting mitochondrial DNA, which always comes from the mother)

Now, as to how many genes are expressed the same as the father... this depends on how many of the father's genes and mother's genes are dominant vs recessive.It also depends on mutations, crossovers and incomplete gene expression, and X linked traits. The genome project estimates that 6.7 % of the genome is heterozygous, or about 2100 genes are heterozygous. The remaining genes are homozygous and are static (and breed true).

Just look at the genetics of 2 genes. If heterozygous genes A and B are mated (or in other words AaBb mates AaBb), the expression of the genes is a ratio of

The father is capable of producing 2^2100 different combinations of the 2100 genes. Same with the mother. Without knowing the father's genotype, you assume that half are dominant (which in an inbreeding situation is a wrong assumption). The postulated formulas are really complex. Suffice it to say that if the human genome has 6.7% heterozygous genes, the the inbred child will have less than 6.7% heterozygous genes.

OK - Maybe I am being overly sensitive, but does anyone else think the south is getting a bad rap here! I grew up in the south(as did my husband - S.Cat) and it has produced some pretty remarkable people (and NO I'm not including the Clintons). Also, I did my pediatric residency at Arkansas Children's Hospital (ranked in the top 25 Children's Hospitals in America by U.S. News and World Report)and never did I have a patient that remotely resembled this f'd up shit on E's genetic diagram. We're not all toothless hillbillies! Etotheipi, I love you man but this is harsh!! I've got to hand it to you yanks and San Fran types- you gave us Teddy K, John "rambo" Kerry, Nancy "angry botox grandma" Pelosi, gay marriage, high taxes, tree huggers (love those guys-they make me laugh), maple syrup, and a host of other great stuff.

Ahem. Well, actually, I was born in the Ozarks, in Arkansas, and raised in the south. I may be a hillbilly, and I definitely am 25% toothless, but this post doesn't bother me. In some sense I am still very much a hillbilly hick, in spite of the fact that I am hyper-educated and a classically trained musician. I am not ashamed of my southern, very rural roots. Don't let this stuff get to ya.

I've got to hand it to you yanks and San Fran types- you gave us Teddy K, John "rambo" Kerry, Nancy "angry botox grandma" Pelosi, gay marriage, high taxes, tree huggers...

See, now there's the right attitude.

And à propos of this post, I'll leave you with this joke:

Q: What do Yankees and sperm have in common? A: One in 3,000,000 has a chance of becoming a human being.

Hi Teresa! I know, I know - I think I came off as a little/a lot more sensitive than I am in reality. I really do know where Etotheipi is coming from and loved the post. Just wanted to try and give him a little bit of a hard time. I have to admit, I am actually related to toothless hillbillies (by marriage, of course haha)who live in the Ozarks - but we absolutely have no inbreeding in our family. I am proud to be southern and wouldn't live anywhere else. I got quite a chuckle out of your joke, by the way!

Hey I'm sorry we all went overboard with the uneccessary Southern US bashing. It was all in good humour, with no ill intent and no aim to stereotype anyone. This is a one-off incident which could have happened anywhere.

At the same time, I'm glad that you found some humour in it, no matter how dark or perverse. I hope this blog can retain its sharp, nearly caustic humour.. instead of being politically correct and running the risk of sounding boring!